Variant report

Variant	rs56052440
Chromosome Location	chr5:112062397-112062398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112048029..112050157-chr5:112062177..112064729,3	K562	blood:
2	chr5:112060614..112062954-chr5:112069496..112072415,2	K562	blood:
3	chr5:112061615..112063683-chr5:112066303..112069003,3	MCF-7	breast:
4	chr5:112056525..112058948-chr5:112060901..112062604,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1372220	0.82[EUR][1000 genomes]
rs17135067	0.86[EUR][1000 genomes]
rs17285372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17285666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17285827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17286230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17290064	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17310536	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17357294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359859	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360045	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360289	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17369211	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369487	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55684649	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55771959	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55798475	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56194248	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56218335	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56235416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320268	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56328836	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57043077	0.86[EUR][1000 genomes]
rs73216225	1.00[EUR][1000 genomes]
rs73220038	0.86[EUR][1000 genomes]
rs73220063	0.80[EUR][1000 genomes]
rs7704566	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112045600-112063600	Weak transcription	Ovary	ovary
2	chr5:112046000-112069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:112047000-112066000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:112047400-112072400	Weak transcription	Thymus	Thymus
5	chr5:112052000-112072600	Weak transcription	Primary B cells from cord blood	blood
6	chr5:112052600-112072600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:112054400-112073200	Weak transcription	Pancreas	Pancrea
8	chr5:112056600-112066200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:112056600-112067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:112056800-112063800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:112057400-112064800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:112058600-112072800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:112058800-112064000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:112059200-112067000	Weak transcription	Brain Anterior Caudate	brain
15	chr5:112059200-112067600	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:112059200-112073200	Weak transcription	Left Ventricle	heart
17	chr5:112060000-112072800	Weak transcription	Fetal Heart	heart
18	chr5:112060400-112064800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:112060600-112070000	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:112060800-112069200	Weak transcription	Brain Substantia Nigra	brain
21	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:112061000-112073000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:112061200-112062400	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr5:112061800-112062400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:112061800-112062400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:112061800-112062400	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr5:112061800-112063000	Weak transcription	Aorta	Aorta
29	chr5:112061800-112073000	Weak transcription	Fetal Stomach	stomach
30	chr5:112062000-112062400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:112062000-112062800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:112062000-112064400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:112062200-112062400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:112062200-112062400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr5:112062200-112062400	Enhancers	Right Ventricle	heart
36	chr5:112062200-112062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:112062200-112067000	Weak transcription	Psoas Muscle	Psoas
38	chr5:112062200-112073000	Weak transcription	Brain Germinal Matrix	brain

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